{"Name":"Holmes-Adie syndrome","DiseaseID__c":"GARD:0005749","id":5749,"encodedName":"holmes-adie-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Holmes-Adie syndrome","Xref_IDs__c":"24225004; C0001519; C34357; D000270; DOID:11549; MEDGEN:138; MONDO:0018690; OMIM:103100; ORPHA:454718","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018690","Disease_Description__c":"A rare syndrome characterized by an abnormally dilated pupil, hypoflexia, and diaphoresis. The syndrome is usually caused by a viral or bacterial infection. The abnormally dilated pupil is caused by damage to postganglionic parasympathetic fibers innervating the eye.","GARD_Name__c":"Holmes-Adie syndrome","GARD_Synonym__c":"adie pupil; adie syndrome; adie's pupil; adie's pupil or syndrome; adie's pupil syndrome; adie's syndrome; holmes adie syndrome; tonic pupil; tonic pupil tendon areflexia syndrome; tonic pupil-tendon areflexia syndrome","Curated_Disease_Description_Source__c":"GARD:0005749","Curated_Disease_Description__c":"Holmes-Adie syndrome is is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal that constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. In most cases, the cause of Holmes-Adie syndrome is unknown. Some cases may result from trauma, surgery, lack of blood flow, or infection.  When only the pupil is affected, the disorder may be referred to as Adie's pupil.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:454718","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018690","ORPHANET_ID__c":"ORPHA:454718","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de holmes-adie","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de holmes-adie","Spanish_GARD_Synonym__c":"síndrome de adie; síndrome de pupila tónica-arreflexia del tendón","Category_Linearization__c":"ORPHA:97966","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Holmes-Adie syndrome is is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal that constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. In most cases, the cause of Holmes-Adie syndrome is unknown. Some cases may result from trauma, surgery, lack of blood flow, or infection.  When only the pupil is affected, the disorder may be referred to as Adie's pupil.","Curated_Disease_Description_Source__c":"GARD:0005749","GARD_Synonym__c":"adie pupil; adie syndrome; adie's pupil; adie's pupil or syndrome; adie's pupil syndrome; adie's syndrome; holmes adie syndrome; tonic pupil; tonic pupil tendon areflexia syndrome; tonic pupil-tendon areflexia syndrome","Name":"Holmes-Adie syndrome","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:454718"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0001519"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=24225004","Source__c":"MONDO:0018690","Xref__c":"24225004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0001519","Source__c":"C0001519","Xref__c":"C0001519"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=138","Source__c":"C0001519","Xref__c":"MEDGEN:138"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C34357","Source__c":"C0001519; MONDO:0018690","Xref__c":"C34357"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11549","Source__c":"MONDO:0018690","Xref__c":"DOID:11549"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C000270","Source__c":"C0001519; MONDO:0018690","Xref__c":"D000270"},{"URL__c":"https://www.orpha.net/en/disease/detail/454718","Source__c":"C0001519; MONDO:0018690; ORPHA:454718","Xref__c":"ORPHA:454718"},{"URL__c":"https://www.omim.org/entry/103100","Source__c":"MONDO:0018690","Xref__c":"OMIM:103100"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018690","Source__c":"GARD:0005749","Xref__c":"MONDO:0018690"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1367666005","Source__c":"C0001519","Xref__c":"1367666005"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the pupillary light reaction characterized by a marked slowing of the light reaction of usually just one pupil. The pupil tends to be relatively dilated, and there is reduced accommodation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012074","HPO_Synonym__c":"Adie pupil; Adie's tonic pupil","HPO_Name__c":"Tonic pupil","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001278","HPO_Synonym__c":"Decrease in blood pressure upon standing up; Postural hypotension","HPO_Name__c":"Orthostatic hypotension","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009916","HPO_Synonym__c":"Asymmetric pupil sizes; Asymmetry of the pupils; Unequal pupil dilatation; Unequal pupil size","HPO_Name__c":"Anisocoria","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal dilatation of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011499","HPO_Synonym__c":"Dilated pupil","HPO_Name__c":"Mydriasis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inequality of refractive power of the two eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012803","HPO_Name__c":"Anisometropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the reflex that controls the diameter of the pupil, in response to the intensity of light that falls on the retina of the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007695","HPO_Name__c":"Abnormal pupillary light reflex","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:454718","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034315","HPO_Name__c":"Chronic cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Ophthalmology","Anterior segment of Eye"]},"synonyms":["adie pupil"," adie syndrome"," adie's pupil"," adie's pupil or syndrome"," adie's pupil syndrome"," adie's syndrome"," holmes adie syndrome"," tonic pupil"," tonic pupil tendon areflexia syndrome"," tonic pupil-tendon areflexia syndrome"]}